Fragile X Frag Analysis Shadow
Fragile X Mutation Detection by Fragment Analysis
Fragile X Synd Car Det,Blood
FRAGILE X FRAG ANALYSIS
Fragile X Syndrome
x-linked mental retardation
Fragile X tremor ataxia syndrome
Fragile X associated premature ovarian insufficiency (FXPOI)
Autism / Intellectual Disability
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This test utilizes a G-C rich PCR method with a FAM-labeled gene-specific primer designed to amplify the entire repeat region and a CGG repeat primer designed to anneal and amplify anywhere along the repeat region. Amplification is followed by analysis with capillary electrophoresis (CE). This test is run in conjunction with methylation PCR to determine methylation status of the gene promoter. Results may be confirmed by a second method such as Southern Blotting, if indicated.
Analysis of CGG repeats present in the FMR1 gene in a patient with clinical features consistent with Fragile X Syndrome or determination of the carrier status of a family member.
Normal alleles: 5-44 CGG repeats; Intermediate (gray zone) mutations: 45-54 CGG repeats; Premutations: 55-200 CGG repeats; Full Mutation: >200 CGG repeats. Interpretative report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….